Canonical Allele Identifier: CA393755609

Linked Data

ClinVar Variation Id: 451950
ClinVar RCV Id: RCV000520855
dbSNP Id: rs1555423120

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89629497T>G , CM000677.2:g.89629497T>G GRCh38
NC_000015.9:g.90172728T>G , CM000677.1:g.90172728T>G GRCh37
NC_000015.8:g.87973732T>G NCBI36
NG_030338.1:g.30955A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696512.1:c.3518A>C (KIF7) ENSP00000512678.1:p.Gln1173Pro
ENST00000394412.8:c.3395A>C (KIF7) MANE Select ENSP00000377934.3:p.Gln1132Pro
ENST00000677187.1:n.1069A>C (KIF7)
ENST00000394412.7:c.3395A>C (KIF7) ENSP00000377934.3:p.Gln1132Pro
ENST00000561095.1:c.808T>G (TICRR)
NM_198525.2:c.3395A>C (KIF7) NP_940927.2:p.Gln1132Pro
XM_005254902.2:c.3395A>C (KIF7) XP_005254959.1:p.Gln1132Pro
XM_011521531.1:c.3518A>C (KIF7) XP_011519833.1:p.Gln1173Pro
XM_011521532.1:c.3515A>C (KIF7) XP_011519834.1:p.Gln1172Pro
XM_011521533.1:c.3515A>C (KIF7) XP_011519835.1:p.Gln1172Pro
XM_011521534.1:c.3518A>C (KIF7) XP_011519836.1:p.Gln1173Pro
XM_011521535.1:c.3518A>C (KIF7) XP_011519837.1:p.Gln1173Pro
XM_011521536.1:c.3518A>C (KIF7) XP_011519838.1:p.Gln1173Pro
XM_011521531.2:c.3518A>C (KIF7) XP_011519833.1:p.Gln1173Pro
NM_198525.3:c.3395A>C (KIF7) MANE Select NP_940927.2:p.Gln1132Pro